(Q39715156)

14 September 2017

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus (English)

1 reference

14 September 2017

0 references

4

Scriver CR

1 reference

14 September 2017

Hoang L

1

1 reference

14 September 2017

Byck S

series ordinal

2

1 reference

14 September 2017

Prevost L

series ordinal

3

1 reference

14 September 2017

language of work or name

English

0 references

publication date

1 January 1996

1 reference

14 September 2017

Nucleic Acids Research

1 reference

14 September 2017

24

1 reference

14 September 2017

1

1 reference

14 September 2017

127-131

1 reference

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

The hyperphenylalaninemias of man and mouse

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Science, medicine and phenylketonuria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

World wide web resources for the biologist

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145593

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8594560

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/24.1.127

1 reference

14 September 2017

journals/nar/HoangBPS96

1 reference

DBLP Dataset 2021-01-02

release_2k3ioqznm5ht7omuyw4sirqltm

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2k3ioqznm5ht7omuyw4sirqltm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 September 2017

PubMed publication ID

8594560

1 reference